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<!--
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UID=8159
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ConceptID=C0003537
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Aphasia</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8159</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0003537</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Alogia; Alogias; Anepia; Anepias; Deafness, Word; Logagnosia; Logagnosias; Logamnesia; Logamnesias; Logasthenia; Logasthenias; Word Deafness</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Aphasia (87486003); Loss of power of expression or comprehension (87486003); Aphasic disturbance (87486003)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
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<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0002381">HP:0002381</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0000598" target="_blank">MONDO:0000598</a></td></tr>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln">An acquired language impairment of some or all of the abilities to produce or comprehend speech and to read or write. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="TLline">Aphasia</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/868417" ref="tree=MeSH" title="MedGen record for Abnormal nervous system physiology">Abnormal nervous system physiology</a></span><ul><li><span class="TLline"><a href="/medgen/868938" ref="tree=MeSH" title="MedGen record for Abnormality of mental function">Abnormality of mental function</a></span><ul><li><span class="TLline"><a href="/medgen/1052794" ref="tree=MeSH" title="MedGen record for Abnormal cognitive process">Abnormal cognitive process</a></span><ul><li><span class="TLline"><a href="/medgen/1842075" ref="tree=MeSH" title="MedGen record for Abnormal communication">Abnormal communication</a></span><ul><li><span class="TLline"><a href="/medgen/1841539" ref="tree=MeSH" title="MedGen record for Abnormal language feature">Abnormal language feature</a></span><ul><li><span class="TLline"><a href="/medgen/1853271" ref="tree=MeSH" title="MedGen record for Abnormal speech pattern">Abnormal speech pattern</a></span><ul><li><span class="matched_ds">Aphasia</span><ul><li><span class="TLline"><a href="/medgen/312" ref="tree=MeSH" title="MedGen record for Anomic aphasia">Anomic aphasia</a></span></li><li><span class="TLline"><a href="/medgen/307140" ref="tree=MeSH" title="MedGen record for Aphasia, Wernicke">Aphasia, Wernicke</a></span></li><li><span class="TLline"><a href="/medgen/1784421" ref="tree=MeSH" title="MedGen record for Bilingual aphasia">Bilingual aphasia</a></span></li><li><span class="TLline"><a href="/medgen/66702" ref="tree=MeSH" title="MedGen record for Conduction aphasia">Conduction aphasia</a></span></li><li><span class="TLline"><a href="/medgen/214592" ref="tree=MeSH" title="MedGen record for Expressive aphasia">Expressive aphasia</a></span></li><li><span class="TLline"><a href="/medgen/1622" ref="tree=MeSH" title="MedGen record for Motor aphasia">Motor aphasia</a></span></li><li><span class="TLline"><a href="/medgen/79466" ref="tree=MeSH" title="MedGen record for Primary progressive aphasia">Primary progressive aphasia</a></span><ul><li><span class="TLline"><a href="/medgen/907332" ref="tree=MeSH" title="MedGen record for Logopenic progressive aphasia">Logopenic progressive aphasia</a></span></li><li><span class="TLline"><a href="/medgen/148373" ref="tree=MeSH" title="MedGen record for Primary progressive non fluent aphasia">Primary progressive non fluent aphasia</a></span></li><li><span class="TLline"><a href="/medgen/83268" ref="tree=MeSH" title="MedGen record for Semantic dementia">Semantic dementia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/141566" ref="tree=MeSH" title="MedGen record for Receptive aphasia">Receptive aphasia</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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||
</div>
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<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_79465"><div><strong>Landau-Kleffner syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>79465</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0282512</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">GRIN2A-related disorders encompass a broad phenotypic spectrum that includes developmental delay evolving to intellectual disability (DD/ID), epilepsy, speech and language disorders, movement disorders, and neuropsychiatric disorders. Intellect ranges from normal to profoundly impaired. Observed speech disorders include dysarthria and speech dyspraxia, and both receptive and expressive language delays; more mildly affected individuals may display subtly impaired intelligibility of conversational speech. Epilepsy features include seizure onset usually between ages three and six years, focal epilepsy with language and/or global developmental regression, and electroencephalogram (EEG) abnormalities, including continuous spike-and-wave discharges in sleep or very active centrotemporal discharges. Epilepsy is typically focal and ranges from self-limited epilepsy with centrotemporal spikes to developmental and/or epileptic encephalopathies (DEE/EE), including the syndromes of DEE/EE with spike-wave activation in sleep (DEE/EE-SWAS), which include Landau-Kleffner syndrome. Movement disorders occur less frequently and include ataxia, dystonia, and chorea.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/79465">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_91009"><div><strong>Flynn-Aird syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>91009</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0343108</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare genetic disease characterized by childhood onset of bilateral progressive sensorineural hearing loss, ocular anomalies (myopia, cataract, retinitis pigmentosa), central and peripheral nervous system features (dementia, epilepsy, ataxia, peripheral neuropathy), ectodermal features (skin atrophy, alopecia, dental caries), and skeletal anomalies (bone cysts, joint stiffness, scoliosis, kyphosis). Laboratory examination may reveal elevated cerebrospinal fluid protein.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/91009">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_155837"><div><strong>Inherited Creutzfeldt-Jakob disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>155837</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0751254</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Genetic prion disease generally manifests with cognitive difficulties, ataxia, and myoclonus (abrupt jerking movements of muscle groups and/or entire limbs). The order of appearance and/or predominance of these features and other associated neurologic and psychiatric findings vary. The three major phenotypes of genetic prion disease are genetic Creutzfeldt-Jakob disease (gCJD), fatal familial insomnia (FFI), and Gerstmann-Sträussler-Scheinker (GSS) syndrome. Although these phenotypes display overlapping clinical and pathologic features, recognition of these phenotypes can be useful when providing affected individuals and their families with information about the expected clinical course. The age at onset typically ranges from 50 to 60 years. The disease course ranges from a few months in gCJD and FFI to a few (up to 4, and in rare cases up to 10) years in GSS syndrome.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/155837">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_162894"><div><strong>MASA syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>162894</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0795953</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">L1 syndrome involves a phenotypic spectrum ranging from severe to mild and includes three clinical phenotypes: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS). MASA (mental retardation [intellectual disability], aphasia [delayed speech], spastic paraplegia [shuffling gait], adducted thumbs) syndrome including X-linked complicated hereditary spastic paraplegia type 1. X-linked complicated corpus callosum agenesis. Males with HSAS are born with severe hydrocephalus, adducted thumbs, and spasticity; intellectual disability is severe. In less severely affected males, hydrocephalus may be subclinically present and documented only because of developmental delay; intellectual disability ranges from mild (IQ: 50-70) to moderate (IQ: 30-50). It is important to note that all phenotypes can be observed in affected individuals within the same family.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/162894">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_331388"><div><strong>Migraine, familial hemiplegic, 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>331388</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1832884</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Familial hemiplegic migraine (FHM) falls within the category of migraine with aura. In migraine with aura (including FHM) the neurologic symptoms of aura are unequivocally localizable to the cerebral cortex or brain stem and include visual disturbance (most common), sensory loss (e.g., numbness or paresthesias of the face or an extremity), and dysphasia (difficulty with speech). FHM must include motor involvement, such as hemiparesis (weakness of an extremity). Hemiparesis occurs with at least one other symptom during FHM aura. Neurologic deficits with FHM attacks can be prolonged for hours to days and may outlast the associated migrainous headache. FHM is often earlier in onset than typical migraine, frequently beginning in the first or second decade; the frequency of attacks tends to decrease with age. Approximately 40%-50% of families with CACNA1A-FHM have cerebellar signs ranging from nystagmus to progressive, usually late-onset mild ataxia.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/331388">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_325051"><div><strong>CARASIL syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>325051</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1838577</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">HTRA1 disorder is a phenotypic spectrum in which some individuals have few to no symptoms and others manifest with the more severe CARASIL (cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy) phenotype. Those who have a heterozygous HTRA1 pathogenic variant may have mild neurologic findings (sometimes identified only on neuroimaging) or mild-to-moderate neurologic signs and symptoms of CARASIL. In this chapter, the term "classic CARASIL" refers to the more severe phenotype associated with biallelic pathogenic variants, and "HTRA1 cerebral small vessel disease" (HTRA1-CSVD) refers to the milder phenotype associated with a heterozygous HTRA1 pathogenic variant. Classic CARASIL is characterized by early-onset changes in the deep white matter of the brain observed on MRI, and associated neurologic findings. The most frequent initial symptom is gait disturbance from spasticity beginning between ages 20 and 40 years. Forty-four percent of affected individuals have stroke-like episodes before age 40 years. Mood changes (apathy and irritability), pseudobulbar palsy, and cognitive dysfunction begin between ages 20 and 50 years. The disease progresses slowly following the onset of neurologic symptoms. Scalp alopecia and acute mid- to lower-back pain (lumbago) before age 30 years are characteristic. The most frequent initial symptom in individuals with HTRA1-CSVD is slowly progressive gait disturbance after age 40 years, which may be followed by the development of mood changes and cognitive dysfunction. A majority of affected individuals have a stroke-like episode after age 40 years. Spondylosis and alopecia are seen in a minority of individuals with HTRA1-CSVD.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/325051">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_374015"><div><strong>Familial developmental dysphasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>374015</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1838630</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">A severe form of developmental verbal apraxia with characteristics of a deficit in spontaneous speech, writing, grammatical judgment and repetition, defective articulation, moderate to severe degree of dyspraxia, a reduced use of consonant clusters and comprehension delay. Hearing and intelligence are normal. Inheritance is autosomal dominant with full penetrance.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/374015">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_333405"><div><strong>Syndromic X-linked intellectual disability 12</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>333405</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1839792</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
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||
<div class="spaceAbove">X-linked intellectual disability, Wilson type is characterised by severe intellectual deficit with mutism, epilepsy, growth retardation and recurrent infections. It has been described in three males from three generations of one family. The causative gene has been localised to the 11p region of the X chromosome.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/333405">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_375285"><div><strong>GRN-related frontotemporal lobar degeneration with Tdp43 inclusions</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375285</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1843792</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">The spectrum of GRN frontotemporal dementia (GRN-FTD) includes the behavioral variant (bvFTD), primary progressive aphasia (PPA; further subcategorized as progressive nonfluent aphasia [PNFA] and semantic dementia [SD]), and movement disorders with extrapyramidal features such as parkinsonism and corticobasal syndrome (CBS). A broad range of clinical features both within and between families is observed. The age of onset ranges from 35 to 87 years. Behavioral disturbances are the most common early feature, followed by progressive aphasia. Impairment in executive function manifests as loss of judgment and insight. In early stages, PPA often manifests as deficits in naming, word finding, or word comprehension. In late stages, affected individuals often become mute and lose their ability to communicate. Early findings of parkinsonism include rigidity, bradykinesia or akinesia (slowing or absence of movements), limb dystonia, apraxia (loss of ability to carry out learned purposeful movements), and disequilibrium. Late motor findings may include myoclonus, dysarthria, and dysphagia. Most affected individuals eventually lose the ability to walk. Disease duration is three to 12 years.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/375285">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_341029"><div><strong>L-2-hydroxyglutaric aciduria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341029</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1855995</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">2-hydroxyglutaric aciduria is a condition that causes progressive damage to the brain. The major types of this disorder are called D-2-hydroxyglutaric aciduria (D-2-HGA), L-2-hydroxyglutaric aciduria (L-2-HGA), and combined D,L-2-hydroxyglutaric aciduria (D,L-2-HGA).\n\nThe main features of D-2-HGA are delayed development, seizures, weak muscle tone (hypotonia), and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such as muscle movement, speech, vision, thinking, emotion, and memory. Researchers have described two subtypes of D-2-HGA, type I and type II. The two subtypes are distinguished by their genetic cause and pattern of inheritance, although they also have some differences in signs and symptoms. Type II tends to begin earlier and often causes more severe health problems than type I. Type II may also be associated with a weakened and enlarged heart (cardiomyopathy), a feature that is typically not found with type I.\n\nL-2-HGA particularly affects a region of the brain called the cerebellum, which is involved in coordinating movements. As a result, many affected individuals have problems with balance and muscle coordination (ataxia). Additional features of L-2-HGA can include delayed development, seizures, speech difficulties, and an unusually large head (macrocephaly). Typically, signs and symptoms of this disorder begin during infancy or early childhood. The disorder worsens over time, usually leading to severe disability by early adulthood.\n\nCombined D,L-2-HGA causes severe brain abnormalities that become apparent in early infancy. Affected infants have severe seizures, weak muscle tone (hypotonia), and breathing and feeding problems. They usually survive only into infancy or early childhood.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/341029">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_355962"><div><strong>Migraine, familial hemiplegic, 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355962</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1865322</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Familial hemiplegic migraine (FHM) falls within the category of migraine with aura. In migraine with aura (including FHM) the neurologic symptoms of aura are unequivocally localizable to the cerebral cortex or brain stem and include visual disturbance (most common), sensory loss (e.g., numbness or paresthesias of the face or an extremity), and dysphasia (difficulty with speech). FHM must include motor involvement, such as hemiparesis (weakness of an extremity). Hemiparesis occurs with at least one other symptom during FHM aura. Neurologic deficits with FHM attacks can be prolonged for hours to days and may outlast the associated migrainous headache. FHM is often earlier in onset than typical migraine, frequently beginning in the first or second decade; the frequency of attacks tends to decrease with age. Approximately 40%-50% of families with CACNA1A-FHM have cerebellar signs ranging from nystagmus to progressive, usually late-onset mild ataxia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/355962">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_412743"><div><strong>Hemolytic uremic syndrome, atypical, susceptibility to, 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>412743</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2749604</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">Hemolytic-uremic syndrome (HUS) is characterized by hemolytic anemia, thrombocytopenia, and renal failure caused by platelet thrombi in the microcirculation of the kidney and other organs. The onset of atypical HUS (aHUS) ranges from the neonatal period to adulthood. Genetic aHUS accounts for an estimated 60% of all aHUS. Individuals with genetic aHUS frequently experience relapse even after complete recovery following the presenting episode; 60% of genetic aHUS progresses to end-stage renal disease (ESRD).</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/412743">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_444010"><div><strong>Potocki-Lupski syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>444010</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2931246</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Potocki-Lupski syndrome (PTLS) is characterized by cognitive, behavioral, and medical manifestations. Cognitively, most individuals present with developmental delay, later meeting criteria for moderate intellectual disability. Behaviorally, issues with attention, hyperactivity, withdrawal, and anxiety may be seen. Some individuals meet criteria for autism spectrum disorder. Medically, hypotonia, oropharyngeal dysphagia leading to failure to thrive, congenital heart disease, hypoglycemia associated with growth hormone deficiency, and mildly dysmorphic facial features are observed. Medical manifestations typically lead to identification of PTLS in infancy; however, those with only behavioral and cognitive manifestations may be identified in later childhood.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/444010">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_854497"><div><strong>Vasculitis due to ADA2 deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854497</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3887654</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Adenosine deaminase 2 deficiency (DADA2) is a complex systemic autoinflammatory disorder in which vasculopathy/vasculitis, dysregulated immune function, and/or hematologic abnormalities may predominate. Inflammatory features include intermittent fevers, rash (often livedo racemosa/reticularis), and musculoskeletal involvement (myalgia/arthralgia, arthritis, myositis). Vasculitis, which usually begins before age ten years, may manifest as early-onset ischemic (lacunar) and/or hemorrhagic strokes, or as cutaneous or systemic polyarteritis nodosa. Hypertension and hepatosplenomegaly are often found. More severe involvement may lead to progressive central neurologic deficits (dysarthria, ataxia, cranial nerve palsies, cognitive impairment) or to ischemic injury to the kidney, intestine, and/or digits. Dysregulation of immune function can lead to immunodeficiency or autoimmunity of varying severity; lymphadenopathy may be present and some affected individuals have had lymphoproliferative disease. Hematologic disorders may begin early in life or in late adulthood, and can include lymphopenia, neutropenia, pure red cell aplasia, thrombocytopenia, or pancytopenia. Of note, both interfamilial and intrafamilial phenotypic variability (e.g., in age of onset, frequency and severity of manifestations) can be observed; also, individuals with biallelic ADA2 pathogenic variants may remain asymptomatic until adulthood or may never develop clinical manifestations of DADA2.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/854497">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_863578"><div><strong>Intellectual disability, autosomal dominant 29</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863578</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4015141</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
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||
<div class="spaceAbove">SETBP1 haploinsufficiency disorder (SETBP1-HD) is characterized by hypotonia and mild motor developmental delay; intellectual abilities ranging from normal to severe disability; speech and language disorder; behavioral problems (most commonly attention/concentration deficits and hyperactivity, impulsivity), and refractive errors and strabismus. Typically children with SETBP1-HD whose intellect is in the normal or borderline range (IQ 80-90) were diagnosed following genetic testing for behavioral problems and/or severe speech and language disorders (respectively: the inability to produce sounds in words correctly, and deficits in the understanding and/or expression of words and sentences). To date, 47 individuals with SETBP1-HD have been reported.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/863578">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1641069"><div><strong>Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1641069</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4551951</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Inclusion body myopathy associated with Paget disease of bone (PDB) and/or frontotemporal dementia (IBMPFD) is characterized by adult-onset proximal and distal muscle weakness (clinically resembling a limb-girdle muscular dystrophy syndrome), early-onset PDB, and premature frontotemporal dementia (FTD). Muscle weakness progresses to involve other limb and respiratory muscles. PDB involves focal areas of increased bone turnover that typically lead to spine and/or hip pain and localized enlargement and deformity of the long bones; pathologic fractures occur on occasion. Early stages of FTD are characterized by dysnomia, dyscalculia, comprehension deficits, and paraphasic errors, with minimal impairment of episodic memory; later stages are characterized by inability to speak, auditory comprehension deficits for even one-step commands, alexia, and agraphia. Mean age at diagnosis for muscle disease and PDB is 42 years; for FTD, 56 years. Dilated cardiomyopathy, amyotrophic lateral sclerosis, and Parkinson disease are now known to be part of the spectrum of findings associated with IBMPFD.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/1641069">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1648278"><div><strong>Mitochondrial complex 1 deficiency, nuclear type 12</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648278</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4746984</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1648278">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1648374"><div><strong>Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648374</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4748657</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy-2 (PLOSL2), or Nasu-Hakola disease, is a recessively inherited presenile frontal dementia with leukoencephalopathy and basal ganglia calcification. In most cases the disorder first manifests in early adulthood as pain and swelling in ankles and feet, followed by bone fractures. Neurologic symptoms manifest in the fourth decade of life as a frontal lobe syndrome with loss of judgment, euphoria, and disinhibition. Progressive decline in other cognitive domains begins to develop at about the same time. The disorder culminates in a profound dementia and death by age 50 years (summary by Klunemann et al., 2005). For a discussion of genetic heterogeneity of polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy, see 221770.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1648374">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1728824"><div><strong>Frontotemporal dementia and/or amyotrophic lateral sclerosis 8</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1728824</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5436881</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Frontotemporal dementia and/or amyotrophic lateral sclerosis-8 (FTDALS8) is an autosomal dominant neurodegenerative disorder characterized by adult-onset dementia manifest as memory impairment, executive dysfunction, and behavioral or personality changes. Some patients may develop ALS or parkinsonism. Neuropathologic studies show frontotemporal lobar degeneration (FTLD) with tau (MAPT; 157140)- and TDP43 (605078)-immunoreactive inclusions (summary by Dobson-Stone et al., 2020). For a discussion of genetic heterogeneity of FTDALS, see FTDALS1 (105550).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1728824">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1771903"><div><strong>Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1771903</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5436882</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Amyotrophic lateral sclerosis-26 with or without frontotemporal dementia (ALS26) is an autosomal dominant neurodegenerative disorder characterized by adult onset of upper and low motor neuron disease causing bulbar dysfunction and limb weakness (ALS). Patients may also develop frontotemporal dementia (FTD) manifest as primary progressive aphasia, memory impairment, executive dysfunction, and behavioral or personality changes. Although patients may present with 1 or the other diseases, all eventually develop ALS. Neuropathologic studies of the brain and spinal cord show TDP43 (605078)-immunoreactive cytoplasmic inclusions that correlate with clinical features and Lewy body-like cytoplasmic inclusions in lower motor neurons (summary by Mackenzie et al., 2017). For a discussion of genetic heterogeneity of amyotrophic lateral sclerosis, see ALS1 (105400).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1771903">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1809962"><div><strong>Developmental and epileptic encephalopathy 103</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1809962</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5677002</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Developmental and epileptic encephalopathy-103 (DEE103) is characterized by onset of various types of seizures in the first year of life, most of which are refractory to treatment. Affected individuals show global developmental delay with impaired intellectual development ranging from mild to severe. Additional features may include hypotonia, ataxia, and behavioral abnormalities, including autism and hyperactivity (Schwarz et al., 2022). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/1809962">Condition Record</a></div></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1771903" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_325051" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">CARASIL syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1809962" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental and epileptic encephalopathy 103</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_374015" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Familial developmental dysphasia</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_91009" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Flynn-Aird syndrome</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (21)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1728824" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Frontotemporal dementia and/or amyotrophic lateral sclerosis 8</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_375285" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">GRN-related frontotemporal lobar degeneration with Tdp43 inclusions</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_412743" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hemolytic uremic syndrome, atypical, susceptibility to, 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1641069" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_155837" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Inherited Creutzfeldt-Jakob disease</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_863578" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, autosomal dominant 29</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341029" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">L-2-hydroxyglutaric aciduria</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_79465" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Landau-Kleffner syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_162894" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">MASA syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_331388" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Migraine, familial hemiplegic, 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_355962" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Migraine, familial hemiplegic, 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648278" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial complex 1 deficiency, nuclear type 12</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648374" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_444010" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Potocki-Lupski syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_333405" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Syndromic X-linked intellectual disability 12</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_854497" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vasculitis due to ADA2 deficiency</a></div></span></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31901449">Evidence-based guidelines on the therapeutic use of repetitive transcranial magnetic stimulation (rTMS): An update (2014-2018).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lefaucheur JP,
|
||
Aleman A,
|
||
Baeken C,
|
||
Benninger DH,
|
||
Brunelin J,
|
||
Di Lazzaro V,
|
||
Filipović SR,
|
||
Grefkes C,
|
||
Hasan A,
|
||
Hummel FC,
|
||
Jääskeläinen SK,
|
||
Langguth B,
|
||
Leocani L,
|
||
Londero A,
|
||
Nardone R,
|
||
Nguyen JP,
|
||
Nyffeler T,
|
||
Oliveira-Maia AJ,
|
||
Oliviero A,
|
||
Padberg F,
|
||
Palm U,
|
||
Paulus W,
|
||
Poulet E,
|
||
Quartarone A,
|
||
Rachid F,
|
||
Rektorová I,
|
||
Rossi S,
|
||
Sahlsten H,
|
||
Schecklmann M,
|
||
Szekely D,
|
||
Ziemann U</span><br />
|
||
<span class="medgenPMjournal">Clin Neurophysiol</span>
|
||
2020 Feb;131(2):474-528.
|
||
Epub 2020 Jan 1
|
||
doi: 10.1016/j.clinph.2019.11.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31901449" target="_blank">31901449</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31358572">Speech and language therapy approaches to managing primary progressive aphasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Volkmer A,
|
||
Rogalski E,
|
||
Henry M,
|
||
Taylor-Rubin C,
|
||
Ruggero L,
|
||
Khayum R,
|
||
Kindell J,
|
||
Gorno-Tempini ML,
|
||
Warren JD,
|
||
Rohrer JD</span><br />
|
||
<span class="medgenPMjournal">Pract Neurol</span>
|
||
2020 Apr;20(2):154-161.
|
||
Epub 2019 Jul 29
|
||
doi: 10.1136/practneurol-2018-001921.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31358572" target="_blank">31358572</a><a href="/pmc/articles/PMC6986989" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27866120">Evidence-based guidelines on the therapeutic use of transcranial direct current stimulation (tDCS).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lefaucheur JP,
|
||
Antal A,
|
||
Ayache SS,
|
||
Benninger DH,
|
||
Brunelin J,
|
||
Cogiamanian F,
|
||
Cotelli M,
|
||
De Ridder D,
|
||
Ferrucci R,
|
||
Langguth B,
|
||
Marangolo P,
|
||
Mylius V,
|
||
Nitsche MA,
|
||
Padberg F,
|
||
Palm U,
|
||
Poulet E,
|
||
Priori A,
|
||
Rossi S,
|
||
Schecklmann M,
|
||
Vanneste S,
|
||
Ziemann U,
|
||
Garcia-Larrea L,
|
||
Paulus W</span><br />
|
||
<span class="medgenPMjournal">Clin Neurophysiol</span>
|
||
2017 Jan;128(1):56-92.
|
||
Epub 2016 Oct 29
|
||
doi: 10.1016/j.clinph.2016.10.087.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27866120" target="_blank">27866120</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22aphasia%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (531)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36803248">An updated systematic review of stroke clinical practice guidelines to inform aphasia management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Burton B,
|
||
Isaacs M,
|
||
Brogan E,
|
||
Shrubsole K,
|
||
Kilkenny MF,
|
||
Power E,
|
||
Godecke E,
|
||
Cadilhac DA,
|
||
Copland D,
|
||
Wallace SJ</span><br />
|
||
<span class="medgenPMjournal">Int J Stroke</span>
|
||
2023 Oct;18(9):1029-1039.
|
||
Epub 2023 Mar 9
|
||
doi: 10.1177/17474930231161454.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36803248" target="_blank">36803248</a><a href="/pmc/articles/PMC10614176" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34747778">Frontotemporal Dementia - Current Concepts.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Puppala GK,
|
||
Gorthi SP,
|
||
Chandran V,
|
||
Gundabolu G</span><br />
|
||
<span class="medgenPMjournal">Neurol India</span>
|
||
2021 Sep-Oct;69(5):1144-1152.
|
||
doi: 10.4103/0028-3886.329593.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34747778" target="_blank">34747778</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33543347">Primary Progressive Aphasia: Toward a Pathophysiological Synthesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ruksenaite J,
|
||
Volkmer A,
|
||
Jiang J,
|
||
Johnson JC,
|
||
Marshall CR,
|
||
Warren JD,
|
||
Hardy CJ</span><br />
|
||
<span class="medgenPMjournal">Curr Neurol Neurosci Rep</span>
|
||
2021 Feb 4;21(3):7.
|
||
doi: 10.1007/s11910-021-01097-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33543347" target="_blank">33543347</a><a href="/pmc/articles/PMC7861583" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29392464">Primary progressive aphasia: a clinical approach.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marshall CR,
|
||
Hardy CJD,
|
||
Volkmer A,
|
||
Russell LL,
|
||
Bond RL,
|
||
Fletcher PD,
|
||
Clark CN,
|
||
Mummery CJ,
|
||
Schott JM,
|
||
Rossor MN,
|
||
Fox NC,
|
||
Crutch SJ,
|
||
Rohrer JD,
|
||
Warren JD</span><br />
|
||
<span class="medgenPMjournal">J Neurol</span>
|
||
2018 Jun;265(6):1474-1490.
|
||
Epub 2018 Feb 1
|
||
doi: 10.1007/s00415-018-8762-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29392464" target="_blank">29392464</a><a href="/pmc/articles/PMC5990560" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8898264">Treatment efficacy: aphasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Holland AL,
|
||
Fromm DS,
|
||
DeRuyter F,
|
||
Stein M</span><br />
|
||
<span class="medgenPMjournal">J Speech Hear Res</span>
|
||
1996 Oct;39(5):S27-36.
|
||
doi: 10.1044/jshr.3905.s27.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8898264" target="_blank">8898264</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Aphasia%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (5014)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37906327">Primary progressive aphasia: six questions in search of an answer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Belder CRS,
|
||
Marshall CR,
|
||
Jiang J,
|
||
Mazzeo S,
|
||
Chokesuwattanaskul A,
|
||
Rohrer JD,
|
||
Volkmer A,
|
||
Hardy CJD,
|
||
Warren JD</span><br />
|
||
<span class="medgenPMjournal">J Neurol</span>
|
||
2024 Feb;271(2):1028-1046.
|
||
Epub 2023 Oct 31
|
||
doi: 10.1007/s00415-023-12030-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37906327" target="_blank">37906327</a><a href="/pmc/articles/PMC10827918" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36416646">Primary progressive aphasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bekkhus-Wetterberg P,
|
||
Brækhus A,
|
||
Müller EG,
|
||
Norvik MI,
|
||
Winsnes IE,
|
||
Wyller TB</span><br />
|
||
<span class="medgenPMjournal">Tidsskr Nor Laegeforen</span>
|
||
2022 Nov 22;142(17)
|
||
Epub 2022 Nov 21
|
||
doi: 10.4045/tidsskr.22.0100.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36416646" target="_blank">36416646</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33231117">Diagnosing and managing post-stroke aphasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sheppard SM,
|
||
Sebastian R</span><br />
|
||
<span class="medgenPMjournal">Expert Rev Neurother</span>
|
||
2021 Feb;21(2):221-234.
|
||
Epub 2020 Dec 10
|
||
doi: 10.1080/14737175.2020.1855976.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33231117" target="_blank">33231117</a><a href="/pmc/articles/PMC7880889" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29392464">Primary progressive aphasia: a clinical approach.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marshall CR,
|
||
Hardy CJD,
|
||
Volkmer A,
|
||
Russell LL,
|
||
Bond RL,
|
||
Fletcher PD,
|
||
Clark CN,
|
||
Mummery CJ,
|
||
Schott JM,
|
||
Rossor MN,
|
||
Fox NC,
|
||
Crutch SJ,
|
||
Rohrer JD,
|
||
Warren JD</span><br />
|
||
<span class="medgenPMjournal">J Neurol</span>
|
||
2018 Jun;265(6):1474-1490.
|
||
Epub 2018 Feb 1
|
||
doi: 10.1007/s00415-018-8762-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29392464" target="_blank">29392464</a><a href="/pmc/articles/PMC5990560" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18631697">Aphasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alexander MP,
|
||
Hillis AE</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2008;88:287-309.
|
||
doi: 10.1016/S0072-9752(07)88014-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18631697" target="_blank">18631697</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Aphasia%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (6304)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33231117">Diagnosing and managing post-stroke aphasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sheppard SM,
|
||
Sebastian R</span><br />
|
||
<span class="medgenPMjournal">Expert Rev Neurother</span>
|
||
2021 Feb;21(2):221-234.
|
||
Epub 2020 Dec 10
|
||
doi: 10.1080/14737175.2020.1855976.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33231117" target="_blank">33231117</a><a href="/pmc/articles/PMC7880889" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29116473">Early Rehabilitation After Stroke: a Narrative Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Coleman ER,
|
||
Moudgal R,
|
||
Lang K,
|
||
Hyacinth HI,
|
||
Awosika OO,
|
||
Kissela BM,
|
||
Feng W</span><br />
|
||
<span class="medgenPMjournal">Curr Atheroscler Rep</span>
|
||
2017 Nov 7;19(12):59.
|
||
doi: 10.1007/s11883-017-0686-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29116473" target="_blank">29116473</a><a href="/pmc/articles/PMC5802378" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27245310">Speech and language therapy for aphasia following stroke.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brady MC,
|
||
Kelly H,
|
||
Godwin J,
|
||
Enderby P,
|
||
Campbell P</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2016 Jun 1;2016(6):CD000425.
|
||
doi: 10.1002/14651858.CD000425.pub4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27245310" target="_blank">27245310</a><a href="/pmc/articles/PMC8078645" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21571152">Stroke rehabilitation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Langhorne P,
|
||
Bernhardt J,
|
||
Kwakkel G</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
2011 May 14;377(9778):1693-702.
|
||
doi: 10.1016/S0140-6736(11)60325-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21571152" target="_blank">21571152</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15733022">Poststroke aphasia : epidemiology, pathophysiology and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Berthier ML</span><br />
|
||
<span class="medgenPMjournal">Drugs Aging</span>
|
||
2005;22(2):163-82.
|
||
doi: 10.2165/00002512-200522020-00006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15733022" target="_blank">15733022</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Aphasia%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (2286)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33627494">Absent Words, Present Person.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lee JY</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2021 May 11;96(19):908-910.
|
||
Epub 2021 Feb 24
|
||
doi: 10.1212/WNL.0000000000011758.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33627494" target="_blank">33627494</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28791626">Fatal ruxolitinib-related JC virus meningitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ballesta B,
|
||
González H,
|
||
Martín V,
|
||
Ballesta JJ</span><br />
|
||
<span class="medgenPMjournal">J Neurovirol</span>
|
||
2017 Oct;23(5):783-785.
|
||
Epub 2017 Aug 8
|
||
doi: 10.1007/s13365-017-0558-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28791626" target="_blank">28791626</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9290871">Traumatic carotid artery dissection.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Opeskin K</span><br />
|
||
<span class="medgenPMjournal">Am J Forensic Med Pathol</span>
|
||
1997 Sep;18(3):251-7.
|
||
doi: 10.1097/00000433-199709000-00005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9290871" target="_blank">9290871</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8772063">Recovery from aphasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Farmer LJ</span><br />
|
||
<span class="medgenPMjournal">J Miss State Med Assoc</span>
|
||
1996 Aug;37(8):690-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8772063" target="_blank">8772063</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7507396">Speech and language therapy for aphasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Enderby P</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Neurol</span>
|
||
1993 Oct;6(5):761-4.
|
||
doi: 10.1097/00019052-199310000-00014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7507396" target="_blank">7507396</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Aphasia%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (3012)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32978628">Acalculia in Aphasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gonzalez R,
|
||
Rojas M,
|
||
Rosselli M,
|
||
Ardila A</span><br />
|
||
<span class="medgenPMjournal">Arch Clin Neuropsychol</span>
|
||
2021 May 21;36(4):455-464.
|
||
doi: 10.1093/arclin/acaa072.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32978628" target="_blank">32978628</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32295508">Functional Neurological Disorder: A Common and Treatable Stroke Mimic.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Popkirov S,
|
||
Stone J,
|
||
Buchan AM</span><br />
|
||
<span class="medgenPMjournal">Stroke</span>
|
||
2020 May;51(5):1629-1635.
|
||
Epub 2020 Apr 16
|
||
doi: 10.1161/STROKEAHA.120.029076.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32295508" target="_blank">32295508</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28803212">Data-driven classification of patients with primary progressive aphasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hoffman P,
|
||
Sajjadi SA,
|
||
Patterson K,
|
||
Nestor PJ</span><br />
|
||
<span class="medgenPMjournal">Brain Lang</span>
|
||
2017 Nov;174:86-93.
|
||
Epub 2017 Aug 10
|
||
doi: 10.1016/j.bandl.2017.08.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28803212" target="_blank">28803212</a><a href="/pmc/articles/PMC5626563" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15010237">Tense and agreement in German agrammatism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wenzlaff M,
|
||
Clahsen H</span><br />
|
||
<span class="medgenPMjournal">Brain Lang</span>
|
||
2004 Apr;89(1):57-68.
|
||
doi: 10.1016/S0093-934X(03)00298-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15010237" target="_blank">15010237</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3947944">Compensatory articulation in Broca's aphasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sussman H,
|
||
Marquardt T,
|
||
Hutchinson J,
|
||
MacNeilage P</span><br />
|
||
<span class="medgenPMjournal">Brain Lang</span>
|
||
1986 Jan;27(1):56-74.
|
||
doi: 10.1016/0093-934x(86)90005-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3947944" target="_blank">3947944</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Aphasia%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (4287)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/32434313">Speech rehabilitation in dysarthria after stroke: a systematic review of the studies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chiaramonte R,
|
||
Pavone P,
|
||
Vecchio M</span><br />
|
||
<span class="medgenPMjournal">Eur J Phys Rehabil Med</span>
|
||
2020 Oct;56(5):547-562.
|
||
Epub 2020 May 19
|
||
doi: 10.23736/S1973-9087.20.06185-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32434313" target="_blank">32434313</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29137682">Cefepime-induced neurotoxicity: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Payne LE,
|
||
Gagnon DJ,
|
||
Riker RR,
|
||
Seder DB,
|
||
Glisic EK,
|
||
Morris JG,
|
||
Fraser GL</span><br />
|
||
<span class="medgenPMjournal">Crit Care</span>
|
||
2017 Nov 14;21(1):276.
|
||
doi: 10.1186/s13054-017-1856-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29137682" target="_blank">29137682</a><a href="/pmc/articles/PMC5686900" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27245310">Speech and language therapy for aphasia following stroke.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brady MC,
|
||
Kelly H,
|
||
Godwin J,
|
||
Enderby P,
|
||
Campbell P</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2016 Jun 1;2016(6):CD000425.
|
||
doi: 10.1002/14651858.CD000425.pub4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27245310" target="_blank">27245310</a><a href="/pmc/articles/PMC8078645" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24797214">The effectiveness of semantic feature analysis: an evidence-based systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maddy KM,
|
||
Capilouto GJ,
|
||
McComas KL</span><br />
|
||
<span class="medgenPMjournal">Ann Phys Rehabil Med</span>
|
||
2014 Jun;57(4):254-67.
|
||
Epub 2014 Apr 1
|
||
doi: 10.1016/j.rehab.2014.03.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24797214" target="_blank">24797214</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21112422">Communication partner training in aphasia: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Simmons-Mackie N,
|
||
Raymer A,
|
||
Armstrong E,
|
||
Holland A,
|
||
Cherney LR</span><br />
|
||
<span class="medgenPMjournal">Arch Phys Med Rehabil</span>
|
||
2010 Dec;91(12):1814-37.
|
||
doi: 10.1016/j.apmr.2010.08.026.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21112422" target="_blank">21112422</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Aphasia%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (232)</a></div></div>
|
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|
||
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22aphasia%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Aphasia%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d41a1b84f3725e59a61dc4">Aphasia</a>
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<div class="ralinkpop offscreen_noflow">Homo sapiens granulin precursor (GRN), RefSeqGene (LRG_661) on chromosome 17<div class="brieflinkpopdesc">gi|189095255|ref|NG_007886.1||gnl|L G_661</div></div>
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